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Study reports two additional families with 18 affected individuals with nail patella-like renal disease (NPLRD). The predominant LMX1B mutation is the previously reported R246Q mutation.
Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome.
9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations.
Report progression of autosomal dominant renal-limited disease with LMX1B mutation.
38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity.
Lmx1a and Lmx1b expression persists in mature dopaminergic neurons of the substantia nigra pars compacta and the ventral tegmental area. [Review]
these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons
A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail patella syndrome, is reported.
Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events.
In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes
LMX1B is a novel oncogene in ovarian cancer pathogenesis.
this study identified two novel mutations of the LMX1B gene in three unrelated families with autosomaldominant Focal Segmental Glomerulosclerosis and no extrarenal features.
LMX1B is important in regulating type IV collagen gene expression in the GBM of the developing kidney and also has a likely role in regulating additional genes important in podocyte function and maintenance
Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
c.194 A>C (Q65P) mutation is present in the LMX1B gene of the Chilean patients with nail-patella syndrome associated with glaucoma.
effect of lmx1b on gene expression regulation in the brain
The co-occurrence of nail-patella syndrome, attention deficit hyperactivity disorder and major depressive disorder may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function.
Genetic variation in LMX1B may increase the risk of developing schizophrenia.
LMX1B mutations is associated with Nail-Patella syndrome.
novel mutations in patients with nail patella syndrome
Authors conclude that Lmx1b plays a key role as an anti-osteogenic factor in patterning the head mesenchyme into areas with different osteogenic competence. In turn, this patterning event is crucial to generating the proper organization of the bones and soft tissue joints of the calvaria.
Data show that sustained expression of Lmx1a and Lmx1b is required for the survival of adult midbrain dopaminergic neurons.
Lmx1b is required for the topographical organization of dopaminergic innervation in the striatum.Lmx1b regulates Plxnc1 expression.
This is the first report to describe genome-wide Lmx1b binding during limb development.
Otx2 critically depends on Lmx1b for the formation of mdDA neurons.
results demonstrate an important role for the intersection of Lmx1b and Hoxb8::cre expression in the development of nociceptive dorsal horn circuits critical for mechanical and thermal pain processing.
Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1), resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes
We posit that microRNA modulation of the Lmx1b/Wnt axis in the early midbrain/isthmus could determine midbrain size and allocation of dopamine progenitors.
Cell biological and biophysical experiments with primary podocytes isolated after 1 week of Lmx1b inactivation indicated dysregulation of actin cytoskeleton organization
Lmx1b, a key transcription factor for the specification of 5-HT and dopaminergic transmitter phenotypes during embryogenesis, determines some peptide phenotypes in these neurons as well.
Data indicate that tryptophan hydroxylase 2 Tph2-/- and LIM homeobox transcription factor 1 beta Lmx1b-/- females displayed a change in sexual preference.
A protein complex was identified containing PSPC1, PSF and LMX1B, suggesting the existence of this complex in mesodiencephalic dopaminergic neurons.
Lmx1b genes are associated with skeletal development.
This study demonistrated that Lmx1b promotes a neuronal glutamate phenotype and suppresses a GABA one in the embryonic trigeminal brainstem complex
This study demonstrated that Lmx1a and Lmx1b function cooperatively to regulate proliferation, specification, and differentiation of mDA progenitors, including their floor plate-like properties.
data establish that Lmx1b influences the differentiation of multiple neuronal subtypes in the ventral midbrain, whereas Lmx1a appears to be exclusively devoted to the differentiation of the dopamine neuron lineage
report 14 genes that require Lmx1b for their normal expression in the dorsal limb or the restriction of their expression to the ventral limb.
link a specific transcription factor Lmx1b to trabecular meshwork formation and demonstrate specific requirements for Lmx1b in maintaining the integrity of adult anterior segment.
In Lmx1b knockout ((-)(/)(-)) mice, V primary afferent projections to PrV are normal, albeit reduced in number, whereas the PrV-thalamic lemniscal pathway is sparse and develops late.
obtained evidence that Lmx1a and Lmx1b cooperate with Foxa2 to specify mesDA neuron identity by gain-of-function approaches using transgenic mice
It has been proposed that the lmx1b-dependent pressure relief valve is required to maintain fluid homeostasis in the inner ear and other fluid-filled cavities.
Lmx1ba and Lmx1bb function at least partially redundantly in the spinal cord and three functional lmx1b alleles are required in zebrafish for correct numbers of excitatory spinal interneurons at later developmental stages.
Lmx1b and FoxC have roles in regulating podocin expression in podocytes
lmx1b paralogues may contribute to the generation of diencephalic dopaminergic precursors
Results suggest that zebrafish lmx1b.1 and lmx1b.2 promote the survival of periocular mesenchymal cells that influence multiple signaling events required for proper ocular development.
Imx1b.2 regulation of wnt proteins, pax8 and fibroblast growth factor 8 (fgf8) maintains cell survival in the isthmocerebellar region
The spontaneous calcium spike activity in the hindbrain of developing Xenopus laevis larvae modulates the specification of serotonergic neurons via regulation of expression of the Lmx1b transcription factor.
We have over-expressed lmx1b mRNA alone or in combination with potential interacting molecules and analysed the effects on embryonic kidney structures.
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
LIM homeobox transcription factor 1-beta
, LIM/homeobox protein 1.2
, LIM/homeobox protein LMX1B
, LIM homeobox protein
, LIM/homeobox protein 1
, LIM/homeobox protein LMX-1.2
, homeobox protein LMX-1
, homeodomain protein (lmx)
, LIM homeobox transcription factor 1, beta
, LIM homeo box transcription factor 1B
, LIM homeobox transcription factor 1, beta 1
, LIM homeobox protein 1b
, LIM homeobox transcription factor 1-beta.1
, LIM homeobox transcription factor 1, beta 2
, LIM homeobox transcription factor 1, beta a
, LOW QUALITY PROTEIN: LIM homeobox transcription factor 1-beta